Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38076389G>A | CA11063867 | CYP1B1 | c.-70-5079C>T (n.-70-5079C>T) c.1003G>A (p.Glu335Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076389G>C | CA2580585651 | CYP1B1 | c.-70-5079C>G (n.-70-5079C>G) c.1003G>C (p.Glu335Gln) | |
2 | g.38076389G= | CA1245628889 | CYP1B1 | c.-70-5079C= (n.-70-5079C=) c.1003G= (p.Glu335=) | |
2 | g.38076389G>T | CA2580585652 | CYP1B1 | c.-70-5079C>A (n.-70-5079C>A) c.1003G>T (p.Glu335Ter) | gnomAD v4 |
2 | g.38076390A>G | CA2658668410 | CYP1B1 | c.-70-5080T>C (n.-70-5080T>C) c.1004A>G (p.Glu335Gly) | gnomAD v4 |
2 | g.38076391G>A | CA2658668411 | CYP1B1 | c.-70-5081C>T (n.-70-5081C>T) c.1005G>A (p.Glu335=) | gnomAD v4 |
2 | g.38076391G= | CA1245628891 | CYP1B1 | c.-70-5081C= (n.-70-5081C=) c.1005G= (p.Glu335=) | |
2 | g.38076391G>T | CA1245628890 | CYP1B1 | c.-70-5081C>A (n.-70-5081C>A) c.1005G>T (p.Glu335Asp) | dbSNP gnomAD v4 |
2 | g.38076392G>A | CA1245628893 | CYP1B1 | c.-70-5082C>T (n.-70-5082C>T) c.1006G>A (p.Ala336Thr) | dbSNP gnomAD v4 |
2 | g.38076392G= | CA1245628892 | CYP1B1 | c.-70-5082C= (n.-70-5082C=) c.1006G= (p.Ala336=) | |
2 | g.38076392G>T | CA2658668412 | CYP1B1 | c.-70-5082C>A (n.-70-5082C>A) c.1006G>T (p.Ala336Ser) | gnomAD v4 |
2 | g.38076393C>A | CA2658668415 | CYP1B1 | c.-70-5083G>T (n.-70-5083G>T) c.1007C>A (p.Ala336Asp) | gnomAD v4 |
2 | g.38076393C>T | CA2658668413 | CYP1B1 | c.-70-5083G>A (n.-70-5083G>A) c.1007C>T (p.Ala336Val) | gnomAD v4 |
2 | g.38076394del | CA2658668414 | CYP1B1 | c.-70-5083del (n.-70-5083del) c.1008del (p.Ala337HisfsTer?) | gnomAD v4 |
2 | g.38076394C>A | CA2658668416 | CYP1B1 | c.-70-5084G>T (n.-70-5084G>T) c.1008C>A (p.Ala336=) | gnomAD v4 |
2 | g.38076394C= | CA1245628894 | CYP1B1 | c.-70-5084G= (n.-70-5084G=) c.1008C= (p.Ala336=) | |
2 | g.38076394C>T | CA45513231 | CYP1B1 | c.-70-5084G>A (n.-70-5084G>A) c.1008C>T (p.Ala336=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076395G>A | CA1029495327 | CYP1B1 | c.-70-5085C>T (n.-70-5085C>T) c.1009G>A (p.Ala337Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076395G= | CA1245628895 | CYP1B1 | c.-70-5085C= (n.-70-5085C=) c.1009G= (p.Ala337=) | |
2 | g.38076395G>T | CA2658668417 | CYP1B1 | c.-70-5085C>A (n.-70-5085C>A) c.1009G>T (p.Ala337Ser) | gnomAD v4 |
2 | g.38076396C>A | CA2658668418 | CYP1B1 | c.-70-5086G>T (n.-70-5086G>T) c.1010C>A (p.Ala337Glu) | gnomAD v4 |
2 | g.38076396C= | CA1245628896 | CYP1B1 | c.-70-5086G= (n.-70-5086G=) c.1010C= (p.Ala337=) | |
2 | g.38076396C>T | CA768427076 | CYP1B1 | c.-70-5086G>A (n.-70-5086G>A) c.1010C>T (p.Ala337Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076397A>G | CA2658668419 | CYP1B1 | c.-70-5087T>C (n.-70-5087T>C) c.1011A>G (p.Ala337=) | gnomAD v4 |
2 | g.38076398C>A | CA2658668420 | CYP1B1 | c.-70-5088G>T (n.-70-5088G>T) c.1012C>A (p.Arg338=) | gnomAD v4 |
2 | g.38076398C>T | CA2658668421 | CYP1B1 | c.-70-5088G>A (n.-70-5088G>A) c.1012C>T (p.Arg338Trp) | gnomAD v4 |
2 | g.38076398_38076399delinsCG | CA1245628897 | CYP1B1 | c.-70-5089_-70-5088delinsCG (n.-70-5089_-70-5088delinsCG) c.1012_1013delinsCG (p.Arg338=) | |
2 | g.38076399G>A | CA2658668422 | CYP1B1 | c.-70-5089C>T (n.-70-5089C>T) c.1013G>A (p.Arg338Gln) | gnomAD v4 |
2 | g.38076399G>T | CA2658668423 | CYP1B1 | c.-70-5089C>A (n.-70-5089C>A) c.1013G>T (p.Arg338Leu) | gnomAD v4 |
2 | g.38076400del | CA45513233 | CYP1B1 | c.-70-5089del (n.-70-5089del) c.1014del (p.Cys339ValfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076400G>A | CA2658668424 | CYP1B1 | c.-70-5090C>T (n.-70-5090C>T) c.1014G>A (p.Arg338=) | gnomAD v4 |
2 | g.38076400G>T | CA2658668425 | CYP1B1 | c.-70-5090C>A (n.-70-5090C>A) c.1014G>T (p.Arg338=) | gnomAD v4 |
2 | g.38076401T>C | CA2658668426 | CYP1B1 | c.-70-5091A>G (n.-70-5091A>G) c.1015T>C (p.Cys339Arg) | gnomAD v4 |
2 | g.38076402G>A | CA2658668427 | CYP1B1 | c.-70-5092C>T (n.-70-5092C>T) c.1016G>A (p.Cys339Tyr) | gnomAD v4 |
2 | g.38076402G>T | CA2658668428 | CYP1B1 | c.-70-5092C>A (n.-70-5092C>A) c.1016G>T (p.Cys339Phe) | gnomAD v4 |
2 | g.38076403T>C | CA1245628899 | CYP1B1 | c.-70-5093A>G (n.-70-5093A>G) c.1017T>C (p.Cys339=) | dbSNP gnomAD v4 |
2 | g.38076403T= | CA1245628898 | CYP1B1 | c.-70-5093A= (n.-70-5093A=) c.1017T= (p.Cys339=) | |
2 | g.38076404C>A | CA531942533 | CYP1B1 | c.-70-5094G>T (n.-70-5094G>T) c.1018C>A (p.Pro340Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076404C= | CA1245628900 | CYP1B1 | c.-70-5094G= (n.-70-5094G=) c.1018C= (p.Pro340=) | |
2 | g.38076404C>G | CA2658668430 | CYP1B1 | c.-70-5094G>C (n.-70-5094G>C) c.1018C>G (p.Pro340Ala) | gnomAD v4 |
2 | g.38076404C>T | CA1245628901 | CYP1B1 | c.-70-5094G>A (n.-70-5094G>A) c.1018C>T (p.Pro340Ser) | dbSNP gnomAD v4 |
2 | g.38076407del | CA2658668429 | CYP1B1 | c.-70-5094del (n.-70-5094del) c.1021del (p.Gln341ArgfsTer?) | gnomAD v4 |
2 | g.38076405C>A | CA2658668431 | CYP1B1 | c.-70-5095G>T (n.-70-5095G>T) c.1019C>A (p.Pro340His) | gnomAD v4 |
2 | g.38076405C>T | CA2658668432 | CYP1B1 | c.-70-5095G>A (n.-70-5095G>A) c.1019C>T (p.Pro340Leu) | gnomAD v4 |
2 | g.38076406C>A | CA2658668433 | CYP1B1 | c.-70-5096G>T (n.-70-5096G>T) c.1020C>A (p.Pro340=) | gnomAD v4 |
2 | g.38076406C= | CA1245628902 | CYP1B1 | c.-70-5096G= (n.-70-5096G=) c.1020C= (p.Pro340=) | |
2 | g.38076406C>T | CA531942539 | CYP1B1 | c.-70-5096G>A (n.-70-5096G>A) c.1020C>T (p.Pro340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076407C>A | CA2658668434 | CYP1B1 | c.-70-5097G>T (n.-70-5097G>T) c.1021C>A (p.Gln341Lys) | gnomAD v4 |
2 | g.38076407C>T | CA2658668435 | CYP1B1 | c.-70-5097G>A (n.-70-5097G>A) c.1021C>T (p.Gln341Ter) | gnomAD v4 |
2 | g.38076409G>T | CA2658668436 | CYP1B1 | c.-70-5099C>A (n.-70-5099C>A) c.1023G>T (p.Gln341His) | gnomAD v4 |